Diamond-blackfan anemia: A congenital defect in erythropoiesis

Haematologica

Volumn 81, Issue 6, 1996, Pages 560-572

  Dianzani, Irma ^a   Garelli, Emanuela ^a   Ramenghi, Ugo ^a  

^a UNIVERSITY OF TURIN   (Italy)

Author keywords

Diamond Blackfan anemia; Erythropoiesis; Growth factors

Indexed keywords

BLACKFAN DIAMOND ANEMIA; CELL PROLIFERATION; EMBRYO DEVELOPMENT; ERYTHROPOIESIS; HUMAN; RETICULOCYTE COUNT; REVIEW; STEM CELL;

ANIMALS; ERYTHROPOIESIS; FANCONI ANEMIA; HUMANS; INFANT; INFANT, NEWBORN;

EID: 0030321541     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (79)

1. Diamond KL, Blackfan KD. Hypoplastic anemia. Am J Dis Child 1938; 56:464-7.
2. Josephs HW. Anaemia of infancy and early childhood. Medicine 1936; 15:307-451.
3. Young NS, Alter BP. Aplastic anemia: acquired and Inherited. New York:WB Saunders Co., 1994:361-83.
4. Halperin DS, Freedman MH. Diamond-Blackfan anemia: etiology, pathophysiology, and treatment. Am J Pediatr Hematol Oncol 1989; 11:380-94.
5. Kynaston JA, West NC, Reid MM. A regional experience of red cell aplasia. Eur J Pediatr 1993; 152:306-8.
6. Chen EH, Mitchell BS. Hereditary overexpression of adenosine deaminase in erythrocytes: studies in erythroid cell lines and trasgenic mice. Blood 1994; 84: 2346-53.
7. Whitehouse DB, Hopkinson DA, Evans DIK. Adenosine deaminase activity in Diamond-Blackfan syndrome. Lancet 1984; ii:1398-9.
8. Basso G, Cocito MG, Rebuffi L, Donzelli F, Milanesi C, Zanesco L. Congenital hypoplastic anaemia developed in acute megakaryoblastic leukaemia. Helv Paediatr Acta 1981; 36:267-70.
9. Glader BE, Flam MS, Dahl GV, Hyman CB. Hematological malignancies in Diamond Blackfan anemia. Pediatr Res 1990; 27:142A.
10. Janov AJ, Leong T, Nathan DG, Guinan EC. Diamond-Blackfan anemia. Natural history and sequelae of treatment. Medicine 1996; 75:77-87.
11. Heegard ED, Hornsleth A. Parvovirus: the expanding spectrum of disease. Acta Paediatr 1995; 84:109-17.
12. Brown KE, Hibbs JR, Gallinella G, et al. Resistance to Parvovirus B19 infection due to lack of virus receptor (erythrocyte P antigen). N Engl J Med 1994; 330:1192-6.
13. Brown KE, Green SW, De Mayolo JA, et al. Congenital anaemia after transplacental B19 parvovirus infection. Lancet 1994; 343:895-6.
14. Tchernia G, Morinet F, Congard B, Croisille L. Diamond Blackfan anaemia: apparent relapse due to B19 Parvovirus. Eur J Pediatr 1993; 152:209-10.
15. Hasan R, Inoue S. Diamond Blackfan anemia associated with Treacher-Collins syndrome. Ped Hematol Oncol 1993; 10:261-5.
16. Young NS, Alter BP. Aplastic anemia: Acquired and Inherited. New York:WB Saunders Co., 1994; 343-6.
17. Harris HE, Baehner RL, Gleiser S, Weaver DD, Hodes ME. Cartilage-hair hypoplasia, defective T-cell function, and Diamond-Blackfan anemia in an Amish child. Am J Hum Genet 1981; 8: 291-7.
18. Makitie O, Kaitila I. Cartilage hair hypoplasia: clinical manifestation in 108 Finnish patients. Eur J Ped 1993; 152:211-7.
19. Sulisalo T, Klockars J, Makitie O, et al. High resolution linkage disequilibrium mapping of the cartilage hair hypoplasia gene. Am J Hum Genet 1994; 55:937-45.
20. Sieff CA, Williams DA. Hematopoiesis. In: Handin RI, Lux SE, Stossel TP, eds. Blood. Principles and Practice of Hematology. Philadelphia: J.B. Lippincott Co., 1995:171-224.
21. Stella C, Rizzoli V. Stem cell and stem cell factor(s). Haematologica 1995;80:1-4.
22. Freedman MH, Amato D, Saunders EF. Erythroid colony growth in congenital hypoplastic anemia. J Clin Inv 1976; 57:673-7.
23. Chan SHL, Saunders EF, Freedman MH. Diamond-Blackfan syndrome. I. Erythropoiesis in prednisone responsive and resistant disease. Pediatr Res 1982; 16:474-6.
24. Lipton JM, Kudisch M, Gross R, Nathan DG. Defective erythroid progenitor differentiation system in congenital hypoplastic (Diamond-Blackfan) anemia. Blood 1986; 67:962-8.
25. Greinix HT, Storb R, Sanders JE, et al. Long-term survival and cure after marrow transplantation for congenital hypoplastic anemia (Diamond-Blackfan syndrome). Br J Haematol 1993;84:515-20.
26. Lenarsky C, Weinberg K, Guinan E, et al. Bone marrow transplantation for constitutional pure red cell aplasia. Blood 1988; 71:226-9.
27. Mushigima H, Gale RP, Rowlings PA, et al. Bone marrow transplantation for Diamond-Blackfan anemia. Bone Marrow Transplant 1995; 15:55-8.
28. Perdahl EB, Naprstek BL, Wallace WC, Lipton JM. Erythroid failure in Diamond-Blackfan anemia is characterized by apoptosis. Blood 1994; 83:645-50.
29. Nathan DG, Clarke BJ, Hillman DG, Alter BP, Housman DE. Erythroid precursors in congenital hypoplastic (Diamond-Blackfan) anemia. J Clin Invest 1978; 61:489-98.
30. Tsai PH, Arkin S, Lipton JM. An intrinsic progenitor defect in Diamond-Blackfan anaemia. Br J Haematol 1989; 73:112-20.
31. Golde DW, Bersch N, Quan SG, Lusis AJ. Production of erythroid-potentiating activity by a human T-lymphoblast cell line. Proc Natl Acad Sci USA 1980; 77:593-6.
32. Halperin DS, Estrov Z, Freedman MH. Diamond-Blackfan anemia: Promotion of marrow erythropoiesis in vitro by recombinant interleukin-3. Blood 1989; 73:1168-74.
33. Abkowitz JA, Sabo KM, Nakamoto B, et al. Diamond-Blackfan anemia: in vitro response of erythroid progenitors to the ligand for c-kit. Blood 1994; 78:2198-202.
34. Alter BP, Knobloch ME, He L, et al. Effect of Stem Cell Factor on in vitro erythropoiesis in patients with bone marrow failure syndromes. Blood 1992; 80:3000-8.
35. Olivieri NF, Grunberger T, Ben David Y, et al. Diamond-Blackfan anemia: heterogeneous response to hematopoietic progenitor cells in vitro to the protein product of the Steel locus. Blood 1991; 78:2211-5.
36. Bagnara GP, Zauli G, Vitale L, et al. In vitro growth and regulation of bone marrow enriched CD34+ hematopoietic progenitors in Diamond-Blackfan anemia. Blood 1994; 78:2203-10.
37. McGuckin C, Ball S, Gordon-Smith EC. Diamond Blackfan anemia: three patterns of in vitro response to haematopoietic growth factors. Br J Haematol. 1995; 89:457-64.
38. Casadevall N, Croisille L, Auffray I, Tchernia G, Coulombel L. Age-related alterations in erythroid and granulopoietic progenitors in Diamond-Blackfan anaemia. Br J Haematol 1994; 87:369-75.
39. Kobayashi M, Laver JH, Kato T, Miyazaki H, Ogawa M. Recombinant human thrombopoietin (Mpl ligand) enhances proliferation of erythroid progenitors. Blood 1995; 86:2494-9.
40. - erythroid progenitors in normal human bone marrow in the absence of serum. Exp Hematol 1992; 20:418-24.
41. Lyman SD, Seaberg M, Hanna R, et al. Plasma/serum levels of flt3 ligand are low in normal individuals and highly elevated in patients with Fanconi anemia and acquired aplastic anemia. Blood 1995; 86:4091-6.
42. Sthrathdee CA, Gavish H, Shannon W, Buchwald M. Cloning of the cDNAs for Fanconi anemia by functional complementation. Nature 1992; 356:763-7.
43. Pronk JC, Gibson RA, Savoia A, et al. Localization of the Fanconi anaemia complementation group A gene to chromosome 16q24.3. Nature Genet 1995; 11:338-40.
44. Whitney M, Thayer M, Reifsteck C, et al. Microcell mediated chromosome transfer maps the Fanconi anaemia group D gene to chromosome 3p. Nature Genet 1995; 11:341-3.
45. Zhu Y, D'Andrea AD. The molecular physiology of the erythropoietin receptor. Current Opinion Hematol 1994; 1:113-8.
46. Sokol L, Luhovy M, Guan Y, Prchal JF, Semenza GL, Prchal JT. Primary familial polycythemia: a frameshift mutation in the erythropoietin receptor gene and increased sensitivity of erythroid progenitors to erythropoietin. Blood 1995; 86:15-22.
47. de la Chapelle A, Traskelin AL, Juvonen E. Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis. Proc Natl Acad Sci USA 1993; 90:4495-9.
48. Quelle DE, Quelle FW, Wojchowski DM. Mutations in the WSAWSE and cytosolic domains of the erythropoietin receptor affect signal transduction and ligand binding and internalization. Mol Cell Biol 1992; 12:4553-61.
49. Barber DL, DeMartino JC, Showers MO, D'Andrea AD. A dominant negative erythropoietin (EPO) receptor inhibits EPO-dependent growth and blocks F-gp55-dependent transformation. Mol Cell Biol 1994; 14:2257-65.
50. Yoshimura A, Zimmers T, Neumann D, Longmore G, Yoshimura Y, Lodish HF. Mutations in the Trp-Ser-X-Trp-Ser motif of the erythropoietin receptor abolish processing, ligand binding, and activation of the receptor. J Biol Chem 1992; 267:11619-25.
51. Dianzani I, Garelli E, Dompè C, et al. Mutations in the erythropoietin receptor gene are not a common cause of Diamond-Blackfan anemia. Blood 1996; 87:2568-72.
52. Takahashi T, Chiba S, Hirano N, Yazaki Y, Hirai H. Characterization of three erythropoietin (Epo)-binding proteins in various human Epo-responsive cell lines and in cells transfected with human Epo-receptor cDNA. Blood 1995; 85:106-14.
53. Wu H, Liu X, Jaenish R, Lodish HF, Orkin S. Generation of committed erythroid BFU-E and CFU-E progenitors does not require erythropoietin or the erythropoietin receptor. Blood 1995; 86(suppl 1):592.
54. Lin CS, Lim S, D'Agati V, Costantini F. Differential effects of an erythropoietin receptor gene disruption on primitive and definitive erythropoiesis. Blood 1995; 86(suppl 1):592.
55. Russel ES. Hereditary anemias of the mouse: a review for geneticists. Adv Genet 1979; 20:357-9.
56. Huang E, Nocka K, Beier DR, et al. The hematopoietic growth factor KL is encoded by the S1 locus and is the ligand of the c-kit receptor, the gene product of the W locus. Cell 1990; 63:225-33.
57. Drachtman RA, Geissler EN, Alter BP. The SCF and c-kit genes in Diamond Blackfan anemia. Blood 1992; 79:2177-8.
58. Abkowitz JL, Broudy VC, Benet LG, Zsebo KM, Martin FH. Absence of abnormalities of c-kit or its ligand in two patients with Diamond Blackfan anemia. Blood 1992; 79:25-8.
59. Giebel LB, Spritz RA. Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism. Proc Natl Acad Sci USA 1991; 88:8696-9.
60. Alter BP, Gaston T, Lipton JM. Lack of effect of corticosteroids in W/Wv and Sl/SlD mice: these mice are not a model for Diamond-Blackfan anemia. Eur J Haematol 1993; 50:275-8.
61. Kehrl JH. Hematopoietic lineage commitment: role of transcription factors. Stem Cells 1995; 13:223-41.
62. Simon MC. Gotta have GATA. Nature Genet 1995; 11:9-11.
63. Pevny L, Simon MC, Robertson E, et al. Erythroid differentiation in chimeric mice blocked by a targeted mutation in the gene for transcription factor GATA-1. Nature 1991; 349:257-60.
64. Tsai F-Y, Keller G, Kuo FC, et al. An early haematopoietic defect in mice lacking the transcriptional factor GATA-2. Nature 1994; 371:221-6.
65. Pandolfi PP, Roth ME, Karis A, et al. Targeted disruption of the GATA-3 gene causes severe abnormalities in the nervous system and in fetal liver hematopoiesis. Nature Genet 1995; 11:40-4.
66. O'Donovan MC, Guy C, Craddock N, et al. Expanded CAG repeats in schizophrenia and bipolar disorder. Nature Genet 1995; 10:380-1.
67. Hirst MC. FMR1 triplet arrays: paying the price for perfection. J Med Genet 1995; 32:761-3.
68. Bacigalupo A. Guidelines for the treatment of severe aplastic anemia. Haematologica 1994; 79:438-44.
69. Ozsoylu S. High-dose intravenous corticosteroid treatment for patients with Diamond-Blackfan syndrome resistant or refractory to conventional treatment. Am J Pediatr Hematol Oncol 1988; 10:217-23.
70. Bernini JC, Carrillo JM, Buchanan GR. High-dose intravenous methylprednisolone therapy for patients with Diamond-Blackfan anemia refractory to conventional doses of prednisone. J Pediatr 1995; 127:654-9.
71. Bejaoui M, Fitouri Z, Sfar MT, Lakhoua R. Failure of immunosuppressive therapy and high-dose intravenous immunoglobulins in four transfusion-dependent, steroid-unresponsive Blackfan-Diamond anemia patients. Haematologica 1993; 78:38-9.
72. Neimeyer CM, Baumgarten E, Holldack J, et al. Treatment trial with recombinant human erythropoietin in children with congenital hypoplastic anemia. Contrib Nephrol 1991; 88:276-80.
73. Dunbar CE, Smith DA, Kimball J, Garrison L, Nienhuis AW, Young NS. Treatment of Diamond-Blackfan anemia with haematopoietic growth factors, granulocyte-macrophage colony stimulating factor and interleukin-3: Sustained remissions following IL-3. Br J Haematol 1991; 79:316-21.
74. Olivieri NF, Feig SA, Valentine L, Berriman AM, Shore R, Freedman MH. Failure of recombinant human interleukin-3 therapy to induce erythropoiesis in patients with refractory Diamond-Blackfan anemia. Blood 1994; 83:2444-50.
75. Gillio AP, Faulkner LB, Alter BP, et al. Treatment of Diamond-Blackfan anemia with recombinant human interleukin-3. Blood 1993; 822:744-51.
76. Bastion Y, Bordigoni P, Debré M, et al. Sustained response after recombinant interleukin-3 in Diamond Blackfan anemia. Blood 1994; 83:617-8.
77. Ball SE, Tchernia G, Wranne L, et al. Is there a role for interleukin-3 in Diamond-Blackfan anemia? Results of a European multicentre study. Br J Haematol 1995; 91:313-8.
78. Briddel R, Glaspy J, Shpall EJ, LeMaistre F, Menchaca D, McNiece I. Recombinant human stem cell factor (rhSCF) and filgrastim (rhG-CSF) synergize to mobilise myeloid, erythroid and megakaryocyte progenitors in patients with breast cancer. Br J Haematol 1994; 87(suppl 1):92.
79. Glaspy J, LeMaistre ML, Jones R, et al. Dose-response of 7 day administration of recombinant methionyl human stem cell factor (SCF) in combination with filgrastim (G-CSF) for progenitor cell mobilization in patients with stage II breast cancer. Blood 1995; 86 (suppl 1):463.